Canonical Allele Identifier: CA10585757

Gene: LDLR

Linked Data

• ClinVar Variation Id: 252203
• ClinVar RCV Id: RCV000238456
• dbSNP Id: rs879255128
• MyVariant Identifiers: chr19:g.11231121dupA (hg19) ; chr19:g.11120445dupA (hg38)
• PubMed: PMID:19318025

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11120445dup , CM000681.2:g.11120445dup	GRCh38
NC_000019.9:g.11231121dup , CM000681.1:g.11231121dup	GRCh37
NC_000019.8:g.11092121dup	NCBI36
NG_009060.1:g.36065dup , LRG_274:g.36065dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000252444.10:c.2321dup	ENSP00000252444.6:p.Asn774LysfsTer29
ENST00000559340.2:c.*132dup	ENSP00000453696.2:n.*132dup
ENST00000560467.2:c.1943dup	ENSP00000453513.2:p.Asn648LysfsTer29
ENST00000558518.6:c.2063dup MANE Select	ENSP00000454071.1:p.Asn688LysfsTer29
ENST00000252444.9:c.2317dup
ENST00000455727.6:c.1559dup	ENSP00000397829.2:p.Asn520LysfsTer29
ENST00000535915.5:c.1940dup	ENSP00000440520.1:p.Asn647LysfsTer29
ENST00000545707.5:c.1606+212dup	ENSP00000437639.1:n.1606+212dup
ENST00000557933.5:c.2063dup	ENSP00000453557.1:p.Asn688LysfsTer29
ENST00000558013.5:c.2063dup	ENSP00000453346.1:p.Asn688LysfsTer29
ENST00000558518.5:c.2063dup	ENSP00000454071.1:p.Asn688LysfsTer29
NM_000527.4:c.2063dup , LRG_274t1:c.2063dup	NP_000518.1:p.Asn688LysfsTer29
NM_001195798.1:c.2063dup	NP_001182727.1:p.Asn688LysfsTer29
NM_001195799.1:c.1940dup	NP_001182728.1:p.Asn647LysfsTer29
NM_001195800.1:c.1559dup	NP_001182729.1:p.Asn520LysfsTer29
NM_001195803.1:c.1606+212dup	NP_001182732.1:n.1606+212dup
XM_011528010.1:c.2063dup	XP_011526312.1:p.Asn688LysfsTer29
XM_011528011.1:c.1682dup	XP_011526313.1:p.Asn561LysfsTer29
XR_244074.2:n.2073dup
XM_011528010.2:c.2063dup	XP_011526312.1:p.Asn688LysfsTer29
XR_001753685.2:n.2180dup
XR_001753686.2:n.2040dup
NM_000527.5:c.2063dup MANE Select	NP_000518.1:p.Asn688LysfsTer29
NM_001195798.2:c.2063dup	NP_001182727.1:p.Asn688LysfsTer29
NM_001195799.2:c.1940dup	NP_001182728.1:p.Asn647LysfsTer29
NM_001195800.2:c.1559dup	NP_001182729.1:p.Asn520LysfsTer29
NM_001195803.2:c.1606+212dup	NP_001182732.1:n.1606+212dup